Living with Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
A rare eye condition present from birth that affects the cornea, lens, and back of the eye.
Understanding Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
In this condition, both eyes have small corneas (microcornea) and a lens that bulges toward the back (posterior megalolenticonus). Blood vessels from before birth remain in the eye (persistent fetal vasculature). There is also a gap in the tissue at the back of the eye (chorioretinal coloboma). Signs are seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small corneas (microcornea)
- Gap in the tissue at the back of the eye (chorioretinal coloboma)
- Gap in the colored part of the eye (iris coloboma)
- Bulging of the lens toward the back (posterior lenticonus)
- Breakdown of light-sensing cells in the retina
- Leftover fetal blood vessels in the eye
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pediatric Retinal Research Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet.
Also known as: microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome; mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome; mppc syndrome
Patient organizations
- Pediatric Retinal Research FoundationMicrocornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome.
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